Canonical Allele Identifier: CA516816582

Gene: IL2RG

Linked Data

• ClinVar Variation Id: 1538131
• ClinVar RCV Id: RCV002159686
• dbSNP Id: rs970632466
• MyVariant Identifiers: chrX:g.70330427T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110577T>G , CM000685.2:g.71110577T>G	GRCh38
NC_000023.10:g.70330427T>G , CM000685.1:g.70330427T>G	GRCh37
NC_000023.9:g.70247152T>G	NCBI36
NG_009088.1:g.5977A>C , LRG_150:g.5977A>C
NG_021141.1:g.1212A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.381A>C	ENSP00000421262.2:p.Thr127=
ENST00000696903.1:n.432A>C
ENST00000374202.7:c.381A>C MANE Select	ENSP00000363318.3:p.Thr127=
ENST00000642473.1:n.745A>C
ENST00000644022.1:n.787A>C
ENST00000644708.1:n.787A>C
ENST00000644911.1:n.787A>C
ENST00000645266.1:c.381A>C	ENSP00000493734.1:p.Thr127=
ENST00000645518.1:c.381A>C	ENSP00000493986.1:p.Thr127=
ENST00000646106.1:c.381A>C	ENSP00000496437.1:p.Thr127=
ENST00000646505.1:c.381A>C	ENSP00000496673.1:p.Thr127=
ENST00000647492.1:c.381A>C	ENSP00000495340.1:p.Thr127=
ENST00000276110.6:n.766A>C
ENST00000374188.7:c.-336A>C	ENSP00000363303.3:n.-336A>C
ENST00000374202.6:c.381A>C	ENSP00000363318.2:p.Thr127=
ENST00000456850.6:c.24+848A>C	ENSP00000388967.2:n.24+848A>C
ENST00000464642.5:c.249A>C	ENSP00000425233.1:p.Thr83=
ENST00000487883.1:c.345A>C	ENSP00000423966.1:p.Thr115=
ENST00000512747.3:n.448A>C
NM_000206.2:c.381A>C , LRG_150t1:c.381A>C	NP_000197.1:p.Thr127=
NM_000206.3:c.381A>C MANE Select	NP_000197.1:p.Thr127=